Understanding Primary Immunodeficiency Disorders
This observational study aims to learn more about Primary Immunodeficiency Disorders (PIDs), which are conditions that weaken the immune system. Researchers want to understand the genetic causes of PIDs and how these conditions affect people over time. You can participate if you have a PID, are a healthy biological relative of someone with a PID, or are a healthy volunteer. The study will look for unique clinical features linked to known genetic causes of PID and identify new genetic variations associated with PID. The study's success will be measured by these discoveries over 10-15 years. The current recruitment status is unclear.
- Study design
- This is an observational study with a planned enrollment of 2500 participants, including individuals with PID, their healthy relatives, and healthy volunteers.
- What's involved
- You will have a medical history taken, a physical exam, and an HIV blood test. You may also have a pregnancy test. You may be asked to provide one or more blood samples for immunologic and genetic investigations.
- Compensation
- Not stated in the trial record.
- Follow-up
- Participants will be followed clinically over time to assess their immune system, clinical disease, and response to therapies. The study aims to identify outcomes over 10-15 years.
AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.
The Mechanistic Biology of Primary Immunodeficiency Disorders
At a glance
Conditions
Where it's being run
2 sites across 2 statesStudy leadership
- Luigi D Notarangelo, M.D. · PRINCIPAL_INVESTIGATOR · National Institute of Allergy and Infectious Diseases (NIAID)
Who to contact
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What this trial measures
- Identification of unique clinical phenotypes associated with known genetic causes of PID.10- 15 years
comparing these subjects to the large cohort of data in the Exome Aggregation Consortium (ExAC) Browser (Beta), which is available through http://exact.broadinstitute.org.
- Identification of genetic variants that are associated with PID.10-15 years
comparing these subjects to the large cohort of data in the Exome Aggregation Consortium (ExAC) Browser (Beta), which is available through http://exact.broadinstitute.org.